STAGING

Sequencing Tumor And Germline DNA - Implications & National Guidelines

Project report

STAGING is a very large childhood cancer research endeavor for Denmark, and we are very grateful to the many people contributing to inclusion, reporting results and many dother aspects of running this project. Thank you!

Below I’ve generated a brief status report for the project. The report contains no person-identifianble information and may be circulated to anyone interested, but information from this report must not be rephrased or used in any form without our prior knowledge and consent.

Inclusion

Since the project’s start date, July 1st 2016, we have approached 874 patients, which led to the inclusion statuses shown here:

Inclusion rate

Inclusion rate for the project as whole is: 80% [613 / 760]

• per hospital
  • Inclusion rate for RH: 82% [368 / 448]
  • Inclusion rate for AUH: 83% [150 / 180]
  • Inclusion rate for OUH: 69% [70 / 101]
  • Inclusion rate for ÅUH: 80% [25 / 31]
• per diagnosis
  • Inclusion rate for hematological malignancies: 82% [302 / 367]
  • Inclusion rate for solid malignancies: 80% [172 / 214]
  • Inclusion rate for CNS malignancies: 84% [133 / 157]
  • Inclusion rate for unknown malignancies: 27% [6 / 22]

Diagnosis

Distribution of diagnoses with catagories for patients that declined and accepted to participate in the STAGING, respectively:

Results

Of the 613 patients included in the study, 565 have recieved final results, meaning that 48 are currently waiting.

• Waiting for DNA sampling: 24
• Waiting for sequencing data results: 15
• Waiting for classification and report: 13

This plot shows the number of days from sample to reported final result, with a line showing the moving 10-patient average. You can mouse over to see additional information:

In STAGING, we analyze 314 genes in the germline DNA with known or suspected relation to cancer risk, as well as ACMG genes not covered by our cancer-gene panel. Thus far our multidisciplinary board has classified 5761 single nucleotide variants (SNVs) and 1517 structural variants (SVs) within these genes. A total of 4245 variants found were unique in the cohort. The following plot shows the distribution of classifications:

Secondary findings

In addition to genetic alterations related to cancer predisposition, we also come accross incidental findings. 34 of 613 included patients, or 6%, had an incidental finding. Actionability is judged on an individual level. The distribution of incidental variant findings are shown in this plot:

Please let me know if you have any questions, comments or suggestions, or would like to arrange access to data relevant to a project your working on.

Sincerely,

Ulrik Stoltze